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KCNB1 Gene

protein-coding   GIFtS: 62
GCID: GC20M047984

Potassium Voltage-Gated Channel, Shab-Related Subfamily,...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 11 2     KV2.12
Delayed Rectifier Potassium Channel 12 3     Delayed Rectifier Potassium Channel Kv2.12
Voltage-Gated Potassium Channel Subunit Kv2.12 3     H-DRK1 K(+) Channel2
DRK12 3     Potassium Channel Protein DRK12
h-DRK12 3     Potassium Voltage-Gated Channel Subfamily B Member 12

External Ids:    HGNC: 62311   Entrez Gene: 37452   Ensembl: ENSG000001584457   OMIM: 6003975   UniProtKB: Q147213   

Export aliases for KCNB1 gene to outside databases

Previous GC identifers: GC20M047717 GC20M048626 GC20M048673 GC20M047421 GC20M044737


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNB1 Gene:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both
functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart
rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and
cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified
in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium
channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its
activity is modulated by some other family members. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNB1 Gene:
KCNB1 (potassium voltage-gated channel, Shab-related subfamily, member 1) is a protein-coding gene. Diseases associated with KCNB1 include blastomycosis, and arterial tortuosity syndrome. GO annotations related to this gene include outward rectifier potassium channel activity and protein N-terminus binding. An important paralog of this gene is KCNF1.

UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721
Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close
in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their
electrochemical gradient

summary for KCNB1 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNB1 gene promoter:
         Max1   NF-1   Spz1   NRSF form 1   LCR-F1   NRSF form 2   Ik-2   Chx10   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNB1 promoter sequence
   Search Chromatin IP Primers for KCNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.2   Ensembl cytogenetic band:  20q13.13   HGNC cytogenetic band: 20q13.2

KCNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNB1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M047984:  view genomic region     (about GC identifiers)

Start:
47,980,414 bp from pter      End:
48,099,184 bp from pter
Size:
118,771 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily B member 1  
Size: 858 amino acids; 95878 Da
Subunit: Heteromultimer with KCNG2, KCNG3, KCNG4, KCNS1, KCNS2, KCNS3 and KCNV2 (By similarity)
Sequence caution: Sequence=AAA36156.1; Type=Erroneous initiation;
Secondary accessions: Q14193

Explore the universe of human proteins at neXtProt for KCNB1: NX_Q14721

Explore proteomics data for KCNB1 at MOPED

Post-translational modifications: 

  • Highly phosphorylated on serine residues in the C-terminal. Differential phosphorylation on a subset of serines
    allows graded activity-dependent regulation of channel gating. Phosphorylation on Ser-457, Ser-541, Ser-567,
    Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are all regulated by calcineurin-mediated
    dephosphorylation. Particularly, Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through
    phosphorylation/ dephosphorylation activities. Tyr-128 can be dephosphorylated by PTPalpha and cyt-PTPepsilon.
    Phosphorylation levels on Ser-607 are supersensitive to neuronal activity. Phosphorylation on Ser-567 is reduced
    during postnatal development with low levels at P2 and P5. Levels then increase to reach adult levels by P14.
    Phosphorylation levels on Ser-564 and Ser-607 are greatly reduced during seizures, by 40% and 85% respectively
    (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004966.1  
    ENSEMBL proteins: 
     ENSP00000360806  
    Reactome Protein details: Q14721

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv2.1
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 10):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003973 K_chnl_volt-dep_Kv2
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry Q14721

    ProtoNet protein and cluster: Q14721

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB004350 Kv2.1 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNB1_HUMAN, Q14721
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Domain: The tail may be important in modulation of channel activity and/or targeting of the channel to specific
    subcellular compartments
    Similarity: Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily


    KCNB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNB1_HUMAN, Q14721
    Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close
    in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their
    electrochemical gradient

         Genatlas biochemistry entry for KCNB1:
    potassium voltage-gated channel,Drosophila Shab-related subfamily

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005515protein binding IPI10484328
    GO:0015271outward rectifier potassium channel activity IEA--
         
    KCNB1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnb1):
     endocrine/exocrine gland  homeostasis/metabolism 

    KCNB1 for phenotypes           About GeneDecksing

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNB1_HUMAN, Q14721: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    chloroplast1
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----
    GO:0030425dendrite IEA--
    GO:0032590dendrite membrane IEA--

    KCNB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNB1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion by Glucagon-like Peptide-10.56
    Regulation of Insulin Secretion0.75
    3Transmission across Chemical Synapses
    Neuronal System0.68
    4Taste transduction
    Taste transduction0.45
    5Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNB1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 BioSystems Pathway for KCNB1
        Calcium Regulation in the Cardiac Cell

    2 Reactome Pathways for KCNB1
        Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
    Voltage gated Potassium channels


    1 Kegg Pathway  (Kegg details for KCNB1):
        Taste transduction


    KCNB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNB1: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNB1 (Q147213 ENSP000003608064) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNS3Q9BQ313, ENSP000003058244I2D: score=2 STRING: ENSP00000305824
    PTPREP234693, ENSP000002546674I2D: score=2 STRING: ENSP00000254667
    KCNG1Q9UIX43, ENSP000003606264I2D: score=1 STRING: ENSP00000360626
    KCNH1O952593, ENSP000002717514I2D: score=1 STRING: ENSP00000271751
    KCNV1Q6PIU13, ENSP000002974044I2D: score=1 STRING: ENSP00000297404
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006811ion transport ----
    GO:0006813potassium ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0044281small molecule metabolic process TAS--

    KCNB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNB1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    3 IUPHAR Ligands for KCNB1 (Kv2.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    3-bicyclo[2.2.1]hept-2-yl-benzene-1,2-diol
    Pore BlockerNone614722253
    linoleic acid
    Pore BlockerNone5.111546665
    tetraethylammonium
    InhibitorNone5.1--

    4 Novoseek inferred chemical compound relationships for KCNB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 60.6 15 18716211 (2), 11429406 (1), 10980613 (1), 12586336 (1) (see all 11)
    4-aminopyridine 51.7 1 12242265 (1)
    tetraethylammonium 49 1 12642579 (1)
    calcium 6.49 1 15353504 (1)



    KCNB1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCNB1 gene: 
    NM_004975.2  

    Unigene Cluster for KCNB1:

    Potassium voltage-gated channel, Shab-related subfamily, member 1
    Hs.84244  [show with all ESTs]
    Unigene Representative Sequence: L02840
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371741(uc002xur.1 uc002xus.1)
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    Additional mRNA sequence: 

    AF026005.1 BC127120.1 L02840.1 

    6 DOTS entries:

    DT.113446  DT.95362628  DT.97785231  DT.100742174  DT.101985667  DT.91776272 

    Selected AceView cDNA sequences (see all 86):

    AW236928 AA234923 AA234922 BQ189370 BM711704 BQ186746 BM931848 F01875 
    BM675921 AI627408 AA722102 AI458502 AA069770 BU730308 BX491423 BM702620 
    AA584187 F01932 BM703328 BM716727 BU729580 AF026005 BM678090 BX955525 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTCAGAGC
    KCNB1 Expression
    About this image


    KCNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    KCNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.84244
        Pathway & Disease-focused RT2 Profiler PCR Array including KCNB1: 
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNB1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnb11 , 5 potassium voltage gated channel, Shab-related subfamily, more1, 5 86.62(n)1
    93.82(a)1
      2 (87.22 cM)5
    165001  NM_008420.41  NP_032446.21 
     1671033785 
    chicken
    (Gallus gallus)
    Aves KCNB11 potassium voltage-gated channel, Shab-related subfamily, more 75.44(n)
    84.53(a)
      428146  XM_425704.3  XP_425704.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    83(a)
    many ↔ many
    4(146785839-146787137)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcnb1-A2 potassium voltage-gated channel, Shab-related subfamily, more 74.94(n)    U20343.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnb11 potassium voltage-gated channel, Shab-related subfamily, more 67.81(n)
    71.04(a)
      555284  XM_677756.4  XP_682848.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Shab3 potassium ion transport voltage-gated
    potassium more
    69(a)     --


    ENSEMBL Gene Tree for KCNB1 (if available)
    TreeFam Gene Tree for KCNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNB1 gene
    KCNF12  KCNG32  KCNB22  KCNV12  KCNG22  KCNS22  KCNS32  KCNV22  
    KCNG42  KCNG12  KCNS12  
    Selected SIMAP similar genes for KCNB1 using alignment to 2 protein entries:     KCNB1_HUMAN (see all proteins) (see all similar genes):
    KCNV1    KCNG1    KCNB2    KCNF1    KCNS2    KCNS3
    KCNG2    KCNS1    KCNG4    KCNV2    KCNA1    KCNA3
    KCND2    KCNG3    KCNA10    KCNA4    KCNA2    KCNC2

    KCNB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNB1 (see all 2343)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1898413961,2
    --44849628(+) CAGATA/CGGAAC 1 -- us2k10--------
    rs15022451,2
    C,F,A,H--44849716(-) GATGTA/GTTCAT 1 -- us2k124Minor allele frequency- G:0.38NS EA NA CSA WA 2352
    rs1816169691,2
    --44849744(+) GCAGGG/TGGTGA 1 -- us2k10--------
    rs2008528041,2
    C--44849753(-) TAGCGG/TTTATC 1 -- us2k10--------
    rs1506518941,2
    --47988203(+) TGTATA/GCTTGA 1 -- ds50010--------
    rs1870231771,2
    --47988204(+) GTATAC/TTTGAC 1 -- ds50010--------
    rs1919230431,2
    --47988320(+) GACAGC/TAATAC 1 -- ds50010--------
    rs622076391,2
    F--47988458(+) AACCTA/GTTTTT 1 -- ds50012Minor allele frequency- G:0.05NA 122
    rs33311,2
    C,F,H--47988601(+) TTCAAT/CGCGTG 1 -- ut3110Minor allele frequency- C:0.08MN NA NS EA CSA 646
    rs1180345121,2
    C,F--47988624(+) TTTCAT/CTTTTG 1 -- ut311Minor allele frequency- C:0.03EA 120

    HapMap Linkage Disequilibrium report for KCNB1 (47980414 - 48099184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KCNB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661866CNV Deletion23128226
    nsv509775CNV Insertion20534489
    nsv912914CNV Loss21882294
    nsv459001CNV Loss19166990
    nsv527882CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNB1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600397    OMIM disorders: --

    15 diseases for KCNB1:    
    About MalaCards
    blastomycosis    arterial tortuosity syndrome    sporotrichosis    cutis laxa
    brain ischemia    patent ductus arteriosus    encephalomyelitis    ischemia
    hepatitis c virus    hepatitis c    hypoxia    neuronitis
    obesity    hepatitis    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for KCNB1:
    Sporotrichosis     Blastomycosis

    KCNB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNB1
    Human Genome Epidemiology (HuGE) Navigator: KCNB1 (3 documents)

    Export disorders for KCNB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNB1 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with KCNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. A quantitative trait locus for SBP maps near KCNB1 and PTGIS in a population isolate. (PubMed id 19265782)1, 4 BarbaliA8 M....Rudan P. (Am. J. Hypertens. 2009)
    3. Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study. (PubMed id 19454037)1, 4 Arnett D.K....Broeckel U. (BMC Med. Genet. 2009)
    4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    6. Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2. (PubMed id 7774931)1, 3 Melis R....Leppert M. (Genomics 1995)
    7. Cloning and characterization of a human delayed rectifier potassium channel gene. (PubMed id 8081723)1, 2 Albrecht B.... Pongs O. (Recept. Channels 1993)
    8. Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait. (PubMed id 8698327)4, 9 Mazzanti C.M....Goldman D. (Hum. Genet. 1996)
    9. Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus. (PubMed id 12403834)1, 9 MacDonald P.E....Gaisano H.Y. (Mol. Endocrinol. 2002)
    10. Oxygen-sensitive Kv channel gene transfer confers oxygen responsiveness to preterm rabbit and remodeled human ductus arteriosus: implications for infants with patent ductus arteriosus. (PubMed id 15353504)1, 9 ThAcbaud B....Archer S.L. (Circulation 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3745 HGNC: 6231 AceView: KCNB1 Ensembl:ENSG00000158445 euGenes: HUgn3745
    ECgene: KCNB1 Kegg: 3745 H-InvDB: KCNB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNB1 gene:
    Search GeneIP for patents involving KCNB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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